rs10757278 (9p21 region) affects the risk of arterial thrombosis in male individuals from the state of anzoátegui, Venezuela

Abstract

Background: Numerous single nucleotide polymorphisms (SNPs) located in chromosomal region 9p21 have been associated with cardiovascular disease, most of these studies in European populations. We have no knowledge of studies conducted in admixed populations populations as the Latin Americans. For this reason we decided to study the association of SNPs rs2383206, rs10757274 and rs10757278, together with some non-genetic factors with arterial thrombotic events (AT), in individuals from the north-eastern portion of Venezuela. Methods: Gender, age and non-genetic risk variables were evaluated in 119 patients with AT and 119 control subjects. Genotypes were identified using TaqMan probes. The odds ratio (OR) for genotypes alone and in conjunction with non-genetic variables were estimated. Results: There was a consistent association of rs10757278 with AT, increased in males (OR=2.38). The medium-low socioeconomic status also confers a significant risk for AT in both sexes (OR=4.04). Haplotypes with at least two A alleles, proved to be protective (OR=0.53) in developing arterial thrombosis. Conclusions: There was a consistent association with AT for the rs10757278 polymorphism, increased in males. Sex and socioeconomic status were also significant risk factors in this study reinforcing the importance in studying other variables such as environmental and sex differences together with the genetic structure of each population when analyzing risks for AT diseases. These results serve as a guide when searching for markers of risk for this disease common in Venezuela.